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Aliases for LMNB2 Gene

Aliases for LMNB2 Gene

  • Lamin B2 2 3 5
  • LMN2 3 4
  • Lamin B3 3
  • Lamin-B2 3
  • LAMB2 3
  • EPM9 3

External Ids for LMNB2 Gene

Previous HGNC Symbols for LMNB2 Gene

  • LMN2

Previous GeneCards Identifiers for LMNB2 Gene

  • GC19U990060
  • GC19M002498
  • GC19M002368
  • GC19M002379
  • GC19M002200

Summaries for LMNB2 Gene

Entrez Gene Summary for LMNB2 Gene

  • This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]

GeneCards Summary for LMNB2 Gene

LMNB2 (Lamin B2) is a Protein Coding gene. Diseases associated with LMNB2 include Epilepsy, Progressive Myoclonic, 9 and Lipodystrophy, Partial, Acquired. Among its related pathways are Apoptosis and survival Caspase cascade and TNFR1 Pathway. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is LMNB1.

UniProtKB/Swiss-Prot for LMNB2 Gene

  • Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin.

Additional gene information for LMNB2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMNB2 Gene

Genomics for LMNB2 Gene

Regulatory Elements for LMNB2 Gene

Enhancers for LMNB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H003150 2 FANTOM5 Ensembl ENCODE dbSUPER 18.4 -696.4 -696393 6 HDGF PKNOX1 FOXA2 ARNT YBX1 ZNF766 FOS DEK SP3 JUNB ZNF77 CACTIN GNA11 ZNF555 CACTIN-AS1 DOT1L SPPL2B SF3A2 AP3D1 GNA15
GH19H003363 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.2 -910.7 -910742 8 HDGF ARNT YBX1 ZNF2 YY1 ZNF143 SP3 MCM3 JUNB REST CACTIN-AS1 CACTIN ZNF77 CCDC94 PIAS4 ENSG00000267139 ZNF555 LMNB2 APBA3 SLC39A3
GH19H002038 2.2 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +406.0 405971 24 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 ZNF77 SF3A2 CIRBP ZNF555 DAZAP1 MUM1 MKNK2 TCF3 LMNB2 BTBD2
GH19H001939 1.8 FANTOM5 ENCODE dbSUPER 12.5 +515.0 514979 5 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF143 ZNF207 SF3A2 ZNF555 DAZAP1 KLF16 CSNK1G2 LMNB2 CIRBP GRIN3B LSM7 BTBD2
GH19H002079 1.8 FANTOM5 ENCODE dbSUPER 12.5 +368.1 368144 18 MLX DMAP1 YBX1 SLC30A9 ZNF143 SP3 NFYC ZNF610 GLIS1 RCOR2 SF3A2 CIRBP ZNF77 BTBD2 MKNK2 ZNF555 LMNB2 ENSG00000268798 RPS15 MOB3A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LMNB2 on UCSC Golden Path with GeneCards custom track

Promoters for LMNB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000105868 396 1601 HDGF PKNOX1 ARID4B DMAP1 YY1 ETS1 ZNF121 SLC30A9 ZNF766 GLIS2

Genomic Location for LMNB2 Gene

Chromosome:
19
Start:
2,427,638 bp from pter
End:
2,456,996 bp from pter
Size:
29,359 bases
Orientation:
Minus strand

Genomic View for LMNB2 Gene

Genes around LMNB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMNB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMNB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMNB2 Gene

Proteins for LMNB2 Gene

  • Protein details for LMNB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03252-LMNB2_HUMAN
    Recommended name:
    Lamin-B2
    Protein Accession:
    Q03252
    Secondary Accessions:
    • O75292
    • Q14734
    • Q96DF6

    Protein attributes for LMNB2 Gene

    Size:
    620 amino acids
    Molecular mass:
    69948 Da
    Quaternary structure:
    • Interacts with TMEM43.
    Miscellaneous:
    • The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively.
    SequenceCaution:
    • Sequence=AAH06551.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LMNB2 Gene

neXtProt entry for LMNB2 Gene

Post-translational modifications for LMNB2 Gene

  • B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.
  • Ubiquitination at posLast=5757, Lys61, Lys103, Lys130, posLast=150150, posLast=255255, Lys265, posLast=278278, Lys306, posLast=496496, and Lys500
  • Modification sites at PhosphoSitePlus

Other Protein References for LMNB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LMNB2 (Lamin B2)

No data available for DME Specific Peptides for LMNB2 Gene

Domains & Families for LMNB2 Gene

Gene Families for LMNB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for LMNB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q03252

UniProtKB/Swiss-Prot:

LMNB2_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with LMNB2: view

Function for LMNB2 Gene

Molecular function for LMNB2 Gene

GENATLAS Biochemistry:
lamin,type B2
UniProtKB/Swiss-Prot Function:
Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin.

Phenotypes From GWAS Catalog for LMNB2 Gene

Gene Ontology (GO) - Molecular Function for LMNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005198 structural molecule activity IEA --
genes like me logo Genes that share ontologies with LMNB2: view
genes like me logo Genes that share phenotypes with LMNB2: view

Human Phenotype Ontology for LMNB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LMNB2 Gene

MGI Knock Outs for LMNB2:

Animal Model Products

CRISPR Products

miRNA for LMNB2 Gene

miRTarBase miRNAs that target LMNB2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LMNB2
  • Applied Biological Materials Clones for LMNB2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LMNB2 Gene

Localization for LMNB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMNB2 Gene

Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMNB2 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LMNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0005638 lamin filament IEA --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with LMNB2: view

Pathways & Interactions for LMNB2 Gene

genes like me logo Genes that share pathways with LMNB2: view

Pathways by source for LMNB2 Gene

Interacting Proteins for LMNB2 Gene

Gene Ontology (GO) - Biological Process for LMNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with LMNB2: view

No data available for SIGNOR curated interactions for LMNB2 Gene

Drugs & Compounds for LMNB2 Gene

(1) Drugs for LMNB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for LMNB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LMNB2: view

Transcripts for LMNB2 Gene

Unigene Clusters for LMNB2 Gene

Lamin B2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LMNB2
  • Applied Biological Materials Clones for LMNB2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for LMNB2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for LMNB2 Gene

GeneLoc Exon Structure for
LMNB2
ECgene alternative splicing isoforms for
LMNB2

Expression for LMNB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LMNB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LMNB2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.4) and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LMNB2 Gene



Protein tissue co-expression partners for LMNB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LMNB2 Gene:

LMNB2

SOURCE GeneReport for Unigene cluster for LMNB2 Gene:

Hs.538286

Evidence on tissue expression from TISSUES for LMNB2 Gene

  • Liver(4.6)
  • Muscle(4.4)
  • Blood(4.3)
  • Lung(3.6)
  • Heart(3.3)
  • Nervous system(3.3)
  • Pancreas(2.7)
  • Eye(2.6)
  • Gall bladder(2.6)
  • Intestine(2.5)
  • Skin(2.4)
  • Adrenal gland(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LMNB2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
Thorax:
  • chest wall
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
Pelvis:
  • ovary
  • pelvis
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LMNB2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LMNB2 Gene

Orthologs for LMNB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LMNB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMNB2 34 33
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LMNB2 34 33
  • 87.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LMNB2 34 33
  • 85.59 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LMNB2 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmnb2 34 16 33
  • 82.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lmnb2 33
  • 81.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LMNB2 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves LMNB2 34 33
  • 74.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 58 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia lmnb2 33
  • 68.02 (n)
zebrafish
(Danio rerio)
Actinopterygii lmnb2 34 33
  • 71.36 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3871 33
fruit fly
(Drosophila melanogaster)
Insecta LamC 33 34
  • 51.18 (n)
Lam 34
  • 36 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011938 33
  • 40.07 (n)
worm
(Caenorhabditis elegans)
Secernentea ifb-1 33
  • 43.74 (n)
lmn-1 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8283 34
  • 38 (a)
OneToMany
Species where no ortholog for LMNB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMNB2 Gene

ENSEMBL:
Gene Tree for LMNB2 (if available)
TreeFam:
Gene Tree for LMNB2 (if available)

Paralogs for LMNB2 Gene

Paralogs for LMNB2 Gene

(10) SIMAP similar genes for LMNB2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LMNB2: view

Variants for LMNB2 Gene

Sequence variations from dbSNP and Humsavar for LMNB2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs57521499 other, Partial acquired lipodystrophy (APLD) [MIM:608709] 2,434,029(-) TGTCC(A/G/T)CCACC reference, missense
rs774297966 A colorectal cancer sample 2,435,150(+) GTGCC(A/C/G)CCGCC upstream-variant-2KB, reference, missense
rs797045143 Pathogenic, Epilepsy, progressive myoclonic 9 (EPM9) [MIM:616540] 2,438,464(-) TGTTC(C/T)ACCGG reference, missense
VAR_074171 Partial acquired lipodystrophy (APLD) [MIM:608709]
rs11084940 Likely benign 2,433,892(-) TCGGG(C/T)AGCGT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for LMNB2 Gene

Variant ID Type Subtype PubMed ID
esv1372661 CNV deletion 17803354
esv23012 CNV loss 19812545
esv2717892 CNV deletion 23290073
esv2717893 CNV deletion 23290073
esv2717894 CNV deletion 23290073
esv2717896 CNV deletion 23290073
esv3643423 CNV loss 21293372
nsv1064930 CNV gain 25217958
nsv1071889 CNV deletion 25765185
nsv1118802 CNV deletion 24896259
nsv1136267 CNV deletion 24896259
nsv1160562 CNV deletion 26073780
nsv953944 CNV deletion 24416366

Variation tolerance for LMNB2 Gene

Residual Variation Intolerance Score: 33.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LMNB2 Gene

Human Gene Mutation Database (HGMD)
LMNB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMNB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMNB2 Gene

Disorders for LMNB2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for LMNB2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic, 9
  • progressive myoclonic epilepsy type 9
lipodystrophy, partial, acquired
  • apl
lipodystrophy
reynolds syndrome
  • primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia
pelger-huet anomaly
  • ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
- elite association - COSMIC cancer census association via MalaCards
Search LMNB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LMNB2_HUMAN
  • Epilepsy, progressive myoclonic 9 (EPM9) [MIM:616540]: An autosomal recessive form of progressive myoclonic epilepsy, a rare disease initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. EPM9 features include myoclonus, tonic-clonic seizures, ataxia, and psychomotor development. {ECO:0000269 PubMed:25954030}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Partial acquired lipodystrophy (APLD) [MIM:608709]: A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Mental retardation in some cases. APLD is a sporadic disorder of unknown etiology. {ECO:0000269 PubMed:16826530, ECO:0000269 PubMed:22768673}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LMNB2

Genetic Association Database (GAD)
LMNB2
Human Genome Epidemiology (HuGE) Navigator
LMNB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LMNB2
genes like me logo Genes that share disorders with LMNB2: view

No data available for Genatlas for LMNB2 Gene

Publications for LMNB2 Gene

  1. The gene for a novel human lamin maps at a highly transcribed locus of chromosome 19 which replicates at the onset of S-phase. (PMID: 1630457) Biamonti G … Riva S (Molecular and cellular biology 1992) 2 3 4 22 60
  2. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. (PMID: 16826530) Hegele RA … Durrington PN (American journal of human genetics 2006) 3 4 22 60
  3. Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. (PMID: 25954030) Damiano JA … Hildebrand MS (Human molecular genetics 2015) 3 4 60
  4. A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene. (PMID: 22768673) Gao J … Luo X (Journal of pediatric endocrinology & metabolism : JPEM 2012) 3 4 60
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60

Products for LMNB2 Gene

  • Addgene plasmids for LMNB2

Sources for LMNB2 Gene

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